Results 31 to 40 of about 29,255 (302)
An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
, 2013 Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
core +2 more sources
Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations
International Journal of Endocrinology, 2012 Common metabolic and endocrine alterations exist across a wide range of muscular dystrophies. Skeletal muscle plays an important role in glucose metabolism and is a major participant in different signaling pathways.
Oriana del Rocío Cruz Guzmán +2 more
doaj +1 more source
The Lancet, 2019 Muscular dystrophies are primary diseases of muscle due to mutations in more than 40 genes, which result in dystrophic changes on muscle biopsy. Now that most of the genes responsible for these conditions have been identified, it is possible to accurately diagnose them and implement subtype-specific anticipatory care, as complications such as cardiac ...
Mercuri E., Bonnemann C. G., Muntoni F.
openaire +4 more sources
Hereditary muscular dystrophies
Бюллетень сибирской медицины, 2009 Precise diagnostic of hereditary muscular diseases begins to change during recent years due to genetic achievements. Genetic defects discoveries typical for different clinical variants of muscular dystrophies give opportunity for creation of specific ...
V. B. Doronin, O. B. Doronina
doaj +1 more source
Crystal structures of the human Dysferlin inner DysF domain [PDF]
, 2014 Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R. +4 more
core +1 more source
Zebrafish models flex their muscles to shed light on muscular dystrophies
Disease Models & Mechanisms, 2012 Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening.
Joachim Berger, Peter D. Currie
doaj +1 more source
Exploiting the full power of temporal gene expression profiling through a new statistical test: Application to the analysis of muscular dystrophy data [PDF]
, 2006 Background: The identification of biologically interesting genes in a temporal expression profiling dataset is challenging and complicated by high levels of experimental noise.
de Meijer, EJ +4 more
core +2 more sources
Archives of Anesthesia and Critical Care, 2022 Muscular dystrophies are a group of genetic diseases which cause progressive degeneration of skeletal muscle along with weakness. They are characterized by an impaired synthesis or regeneration of contractile protein.
Jyoti Deshpande +2 more
doaj +1 more source
Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) [PDF]
, 2012 BACKGROUND: Laminin-alpha2-deficient congenital muscular dystrophy (MDC1A) is a severe muscle-wasting disease for which no curative treatment is available.
Lin, Shuo +2 more
core +1 more source
Brain Sciences, 2015 Dystrophin-glycoprotein complex (DGC) is an important structural unit in skeletal muscle that connects the cytoskeleton (f-actin) of a muscle fiber to the extracellular matrix (ECM).
Bailey Nichols +2 more
doaj +1 more source